Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

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Brief Title

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

Official Title

Prospective, Retrospective, Multicenter, Observational Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia

Brief Summary

      The course of AMN-related disabilities over time is poorly or incompletely understood due to
      a limited number of patients and lack of treatments. This study will help obtain a better
      understanding of the progression of disease with AMN and facilitate efficient clinical
      development of future interventional medications.
    

Detailed Description

      Progressive weakness and spasticity of the legs are characteristics of numerous disorders and
      conditions, including those that are inherited neurological disorders.

      Adrenomyeloneuropathy (AMN) is an example of an inherited form of spastic paraplegia.

      Adrenoleukodystrophy (ALD) is a progressive neurodegenerative disorder caused by a mutation
      in the ABCD1 gene localized to the X-chromosome (Xq28). The ABCD1 gene encodes a peroxisomal
      adenosine triphosphate (ATP) binding cassette transporter responsible for transport of very
      long chain fatty acids (VLCFA) from the cytosol into the peroxisome for degradation. A
      mutation in ABCD1 results in reduction in the degradation of the VLCFA by peroxisomal
      β-oxidation, and saturated VLCFA, in particular C26:0, accumulate in tissues and body fluids
      (i.e., brain, nervous system, adrenal glands). One of the key clinical symptoms during aging
      of ALD patients is a slowly progressive axonopathy affecting sensory ascending and motor
      descending spinal cord tracts with 100% penetrance in men, an ALD phenotype known as AMN.
      There are no treatment options available, which leaves AMN patients with a progressive
      disorder that leads to lifelong physical disability. The progressive dying-back axonopathy
      represents the core clinical feature of AMN, with onset usually between 20 and 30 years of
      age in male participants. The initial symptoms include progressive stiffness and weakness of
      the legs, impaired vibration and position senses in the lower limbs, falls, sphincter
      disturbances and impotence, as well as scarce scalp hair (alopecia). About 66% of male AMN
      patients have adrenocortical insufficiency (Addison disease).

      The course of AMN-related disabilities over time is poorly or incompletely understood due to
      a limited number of patients and lack of treatments. This study will help obtain a better
      understanding of the progression of disease with AMN and facilitate efficient clinical
      development of future SwanBio interventional medications.
    


Study Type

Observational


Primary Outcome

Disease progression

Secondary Outcome

 Change in Quality of Life

Condition

AMN

Intervention

Natural History Observation

Study Arms / Comparison Groups

 Males with AMN
Description:  Adult males with confirmed diagnosis of ALD and symptoms of AMN.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

80

Start Date

June 21, 2021

Completion Date

May 1, 2025

Primary Completion Date

April 30, 2023

Eligibility Criteria

        Inclusion Criteria:

          1. Male adults aged ≥18 years

          2. Diagnosed with ALD based on elevated VLCFA assay and pedigree analysis

          3. Clinical evidence of spinal cord involvement with EDSS score between 1 and 6.5

        Exclusion Criteria:

          1. Diagnosed with cerebral inflammatory disease or has a history of diagnosis with
             cerebral inflammatory disease

          2. Unstable, clinically significant neurologic (other than the disease being studied),
             psychiatric, cardiovascular, ophthalmologic, pulmonary, hepatic, renal, metabolic,
             gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease (other
             than adrenal insufficiency) or other abnormality, which may impact the ability to
             participate in the study or that may potentially confound the study results

          3. Participant who, in the opinion of the Investigator, has any other medical or
             psychological condition or social circumstances which would impair their ability to
             participate reliably in the assessments, or who may increase the risk to themselves or
             others by participating
      

Gender

Male

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

, (267) 417-6356, [email protected]

Location Countries

Netherlands

Location Countries

Netherlands

Administrative Informations


NCT ID

NCT05008874

Organization ID

SBTNHX-CT901


Responsible Party

Sponsor

Study Sponsor

SwanBio Therapeutics, Inc.


Study Sponsor

, , 


Verification Date

August 2021