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RCDP Natural History Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04031287
Recruitment Status : Recruiting
First Posted : July 24, 2019
Last Update Posted : August 2, 2019
Information provided by (Responsible Party):

Brief Summary:
A prospective, longitudinal observational trial in patients with RCDP. Study participants will be evaluated at baseline and approximately every 6 months by the study team. Quality of life, physiologic and functional measurements will be performed. In addition, audiologic recordings and other surveys will be completed at home by parents beginning at baseline and every 3-6 months thereafter.

Condition or disease
Rhizomelic Chondrodysplasia Punctata

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 75 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 18 Months
Official Title: A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP)
Actual Study Start Date : June 18, 2019
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : June 2021

Primary Outcome Measures :
  1. Medical History [ Time Frame: 18 months ]
    History collection will be obtained from parents/caretakers and medical records which will be provided or subsequently obtained in a HIPAA compliant manner.

  2. Body Temperature [ Time Frame: 18 months ]
    Temperature will be recorded using standard clinical methodology and reported in degrees Celsius.

  3. Respiratory Rate [ Time Frame: 18 months ]
    Respiratory rate will be determined by counting number of breaths per minute

  4. Heart Rate [ Time Frame: 18 months ]
    Heart rate will be reported as beats per minute

  5. Blood pressure [ Time Frame: 18 months ]
    Systolic and diastolic pressure will be reported in mmHG

  6. Physical Examination: General Appearance [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  7. Physical Examination: Head, Eyes, Ears, Nose and Throat [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  8. Physical Examination: Cardiovascular [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  9. Physical Examination: Dermatologic [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  10. Physical Examination: Lymphatic [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  11. Physical Examination: Respiratory [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  12. Physical Examination: Gastrointestinal [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  13. Physical Examination: Genitourinary [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  14. Physical Examination: Neurologic System [ Time Frame: 18 months ]
    Reported as "Normal, Abnormal or Not Done". If abnormal, comments will be provided.

  15. Physical Examination: FLACC Behavioural Scale [ Time Frame: 18 months ]
    The standardized FLACC (Faces, Legs, Activity, Consolability) questionnaire will be performed and the score reported.

  16. Anthropometric Measurement: Length/Height [ Time Frame: 18 months ]
    Height (Length) will be reported in centimetres

  17. Anthropometric Measurement: Weight [ Time Frame: 18 months ]
    Weight will be reported in kg

  18. Anthropometric Measurement: Head Circumference [ Time Frame: 18 months ]
    Head Circumference will be reported in cm

  19. Anthropometric Measurement: Chest Circumference [ Time Frame: 18 months ]
    Chest Circumference will be reported in cm

  20. Anthropometric Measurement: Abdominal Circumference [ Time Frame: 18 months ]
    Abdominal Circumference will be reported in cm

  21. Observational pain assessment [ Time Frame: 18 months ]
    Frequency and severity of patient exhibited pain symptoms will be evaluated with two parent-completed questionnaires, The Non-Communicating Children's Pain Checklist- Revised (NCCPC-R) and the Pediatric Pain Scale (PPS)19 (Appendix G). The NCCPC-R is a 7 domain questionnaire that is validated for assessment of pain in children aged 3-18 years who have cognitive and communication impairments. The PPS has 20 domains with a rating scale for each which is also designed to assess symptoms of pain in individuals with communication impairment. Both questionnaires will be completed during the study visits 2 hours after the end of the first morning feed. In addition, the NCCPC-R will be completed by the family 3 months after each visit at the same time interval after the first morning feed.

  22. Musculoskeletal system assessment [ Time Frame: 18 months ]
    Musculoskeletal evaluations will be done together by a physiatrist and physical therapy. These assessments will include: assessments of strength, endurance, functional movement and control of extremities, head/neck and trunk. Assessment of muscle tone and passive and active joint range of motion will be made both qualitative and quantitatively for each major joint. Assessment of cognitive engagement will also be made. To assess the motor function and its changes over time, we propose to use Gross Motor Function Measures (GMFM-88), which is a freely available tool validated to evaluate motor skills in cerebral palsy and Down syndrome.

  23. Nerve conduction [ Time Frame: 18 months ]
    Patients will be placed in a supine position and electrodes will be placed over the hypothenar eminence, 5th digit and dorsal hand. Stimulations will be done at the wrist and above and below the elbow. These electrodes will be connected to the Natus UltraPro S100 machine. This unit will measure nerve conduction for motor and sensory components. The evaluation will assess nerve latencies, compound motor unit and sensory nerve action potential amplitudes and nerve conduction velocities. These values will be compared to age adjusted normal values for the ulnar nerve.

  24. Pulmonary function [ Time Frame: 18 months ]
    A combination of Impulse oscillometry system (IOS), Pneumotachography (PNT) and Respiratory Inductance Plethysmography (RIP) will be used to derive pulmonary indices comparable to spirometry.

  25. Seizure status by EEG [ Time Frame: 18 months ]
    Assessments of brain electrical and seizure activity will take place through electroencephalograms (EEGs) at each study visit. Each EEG will last 4 hours and will be scheduled to optimally include both awake and sleep phases. Using the 10-20 International System, the patient's head will be measured and marked for proper electrode placement. Heart rate and rhythm are monitored throughout the EEG by placement of two electrocardiogram electrodes. Electrical activity is then recorded along with a video feed using the Nicolet NicOne acquisition and Xltek brain monitor machines.

  26. Bone Density and Body Composition by DEXA [ Time Frame: 18 months ]
    The DEXA scans will be performed in the Medical Imaging Department of Nemours/A.I. duPont Hospital for Children on a Hologic Discovery A QDR bone densitometer (Hologic, Inc., Bedford, MA). Subjects will remove all clothing with metal components prior to DEXA scan to eliminate any possible imaging artifacts; a hospital gown will be provided to the subjects. Standard positioning techniques will be used to acquire the scans. Body sites measured will include the whole body, lumbar spine, and lateral distal femurs of both legs. The following variables will be collected from each scan: bone mineral density (BMD), bone mineral content (BMC), and bone area.

  27. Plasmalogen Level [ Time Frame: 18 months ]
    A 100 ul aliquot of the separated serum will be stored at -80 °C and subsequently shipped to Med-Life Discoveries by priority overnight shipment in dry ice. Analyses will include levels of phosphoethanolamines, vinylacylglycerol (VAG), alkylacylglycerol (AAG) and results reported as quantitative concentrations for each metabolite.

  28. Clinical Chemistry [ Time Frame: 18 months ]
    Serum will be processed locally for complete blood count (CBC) and standard comprehensive metabolic profile with phosphorus (CMP with PO4).

  29. Fatigue status [ Time Frame: 18 months ]
  30. Gastrointestinal and Feeding status [ Time Frame: 18 months ]
    To assess level of dysfunction in swallowing, a parent report measure, the Pediatric Assessment Scale for Severe Feeding Problems, designed to assess progress in the development of oral eating skills for children who need prolonged tube feeding will be used. The total score will be used as a quantifiable measure. This questionnaire will be completed during each study visit as well as at home 3 months after each visit. This 13 question interview provides a total score which indicates the level of GI symptom burden.

Biospecimen Retention:   Samples With DNA
Blood samples

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   6 Months to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of RCDP are eligible.

Inclusion Criteria:

  • Diagnosis of RCDP age range 6 months to 21 years
  • A clinical diagnosis of RCDP confirmed with biochemical parameters defined as C16:0 plasmalogen level of less than or equal to 0.75 of the lower limit of the normal reference range AND normal very long chain fatty acid levels.

Exclusion Criteria:

  • Disease severity: The study physician will decide whether the child is too ill to travel due to chronic or acute severe cardiac or respiratory compromise.
  • Guardian or a care-giver who is not available or not capable of providing accurate information about the patient.
  • Involvement in any other clinical trial.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04031287

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Contact: Shawn Ritchie, PhD 306-244-8233
Contact: Tara Smith, PhD 306-244-8233

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United States, Delaware
Alfred I. DuPont Hospital for Children Recruiting
Wilmington, Delaware, United States, 19803
Contact: Candace Muss    302-651-5476   
Sponsors and Collaborators
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Principal Investigator: Michael Bober, MD The Nemours Foundation
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Responsible Party: MED-LIFE DISCOVERIES LP Identifier: NCT04031287    
Other Study ID Numbers: MLD_CT1.0
First Posted: July 24, 2019    Key Record Dates
Last Update Posted: August 2, 2019
Last Verified: August 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Peroxisomal Disorders
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases