Recruiting

Observational Study

Sponsor:

MED-LIFE DISCOVERIES LP

Code:

NCT04031287

Conditions

Rhizomelic Chondrodysplasia Punctata

Eligibility Criteria

Sex: All

Age: 0 - 21

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Rhizomelic Chondrodysplasia Punctata

Study ID

NCT04031287

Start date

Jun 18, 2019

Status verified date

Oct, 2026

Completion date

Dec, 2027

Anticipated

Primary completion date

Dec, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 21

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

75 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Medical History [ Time Frame: 18 months ]
  • Body Temperature [ Time Frame: 18 months ]
  • Respiratory Rate [ Time Frame: 18 months ]
  • Heart Rate [ Time Frame: 18 months ]
  • Blood pressure [ Time Frame: 18 months ]
  • Physical Examination: General Appearance [ Time Frame: 18 months ]
  • Physical Examination: Head, Eyes, Ears, Nose and Throat [ Time Frame: 18 months ]
  • Physical Examination: Cardiovascular [ Time Frame: 18 months ]
  • Physical Examination: Dermatologic [ Time Frame: 18 months ]
  • Physical Examination: Lymphatic [ Time Frame: 18 months ]
  • Physical Examination: Respiratory [ Time Frame: 18 months ]
  • Physical Examination: Gastrointestinal [ Time Frame: 18 months ]
  • Physical Examination: Genitourinary [ Time Frame: 18 months ]
  • Physical Examination: Neurologic System [ Time Frame: 18 months ]
  • Physical Examination: FLACC Behavioural Scale [ Time Frame: 18 months ]
  • Anthropometric Measurement: Length/Height [ Time Frame: 18 months ]
  • Anthropometric Measurement: Weight [ Time Frame: 18 months ]
  • Anthropometric Measurement: Head Circumference [ Time Frame: 18 months ]
  • Anthropometric Measurement: Chest Circumference [ Time Frame: 18 months ]
  • Anthropometric Measurement: Abdominal Circumference [ Time Frame: 18 months ]
  • Observational pain assessment [ Time Frame: 18 months ]
  • Musculoskeletal system assessment [ Time Frame: 18 months ]
  • Nerve conduction [ Time Frame: 18 months ]
  • Pulmonary function [ Time Frame: 18 months ]
  • Seizure status by EEG [ Time Frame: 18 months ]
  • Bone Density and Body Composition by DEXA [ Time Frame: 18 months ]
  • Plasmalogen Level [ Time Frame: 18 months ]
  • Clinical Chemistry [ Time Frame: 18 months ]
  • Fatigue status [ Time Frame: 18 months ]
  • Gastrointestinal and Feeding status [ Time Frame: 18 months ]

Central Contacts and Locations

Central contacts

Tara Smith, PhD

306-244-8233t.smith@med-life.ca

Locations

Alfred I. DuPont Hospital for Children

Recruiting

Wilmington, Delaware, United States, 19803

Contacts

Candace Muss

302-651-5476candace.muss@nemours.org

More Information

Sponsor

MED-LIFE DISCOVERIES LP

Last update posted

Oct 9, 2026

Last verified

Oct, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-10. This information was provided to ClinicalTrials.gov by MED-LIFE DISCOVERIES LP on 2026-10-09. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.