Mucolipidosis Type IV Natural History Study

NCT05782387 | Active Not Recruiting

• 1 other identifier: 2021P003131
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and the MLIV specific scale and test the validity of retrospectively applying these scales to medical record data; to define the rate of visual decline in patients with MLIV.

Conditions

Mucolipidosis Type IV

Outcome Measures

Primary Outcomes (4)

• ML4 Characteristics

  Describe the characteristics of the current international MLIV population.

  Three years

• Developmental Milestones

  Define the age (median and range) at which patients with MLIV achieve or lose developmental milestones.

  Three years

• Gross Motor Function

  Define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and our MLIV specific scale and test the validity of retrospectively applying these scales to medical record data.

  Three years

• Visual Decline

  Define the rate of visual decline in patients with MLIV.

  Three years

Secondary Outcomes (3)

• Iron Deficiency and Achlorhydria

  Three years

• Brain Imaging

  Three years

• Clinical Labs

  Three years

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

We expect to enroll 50 MLIV patients who are currently in communication with the ML4 Foundation. This population is comprised of male and female patients, ages 2-45. Many patients are of Ashkenazi Jewish background. These participant candidates are located nationally and internationally.

You may qualify if:

• Patient of any age or gender with a diagnosis of MLIV confirmed through 1) genetic testing and identification of homozygous MCOLN1 allele variants known to be pathogenic, or 2) clinical characteristics consistent with MLIV and one of the following: a) electron microscopy of fibroblasts or other patient cells demonstrating abnormal lysosomal accumulations consistent with MLIV, or b) elevated gastrin levels (pathognomonic for MLIV in the setting of a neurodevelopmental disorder). Potential participants or guardians must be able to provide informed consent (patient assent is not applicable to the MLIV population).

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02144, United States

Location

MeSH Terms

Conditions

Mucolipidoses

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Patricia Musolino, MD, PHD

  Neurologist

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. Patricia Musolino, MD PhD

Study Record Dates

• First Submitted: February 8, 2023
• First Posted: March 23, 2023
• Study Start: March 15, 2023
• Primary Completion (Estimated): September 1, 2028
• Study Completion (Estimated): September 1, 2028
• Last Updated: April 23, 2026

Record last verified: 2026-04

Locations

US (1)