NCT00294671

The Effect of Diflunisal on Familial Amyloidosis

Completed Phase 2/Phase 3 Results posted Last updated 30 January 2017

What this trial tests

Phase 2/Phase 3 trial testing diflunisal in Familial Amyloid Polyneuropathy in 130 participants. Completed in 1 December 2012.

Timeline

1 February 2006

Primary endpoint
1 December 2012

1 December 2012

Quick facts

Lead sponsor	Boston University
Phase	Phase 2/Phase 3
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	double
Primary purpose	treatment
Enrollment	130
Start date	1 February 2006
Primary completion	1 December 2012
Estimated completion	1 December 2012
Sites	8 locations across United States, Italy, Japan, Sweden, United Kingdom

Drugs / interventions tested

• diflunisal (DIFLUNISAL) — full drug profile →
• placebo

Conditions studied

• Familial Amyloid Polyneuropathy — all drugs for Familial Amyloid Polyneuropathy →
• Familial Amyloidosis — all drugs for Familial Amyloidosis →

Sponsor

Boston University

Who can join

Adults 18 to 75, any sex, with Familial Amyloid Polyneuropathy or Familial Amyloidosis. Patients with the condition only — healthy volunteers not accepted.

What's being measured

Primary outcomes are the specific endpoints the trial is designed to prove or disprove.

• Neurologic Impairment Score + 7 (NIS+7)
  Time frame: Baseline, 1 and 2 years
  The primary endpoint, the difference in polyneuropathy progression between treatments, was measured by the Neuropathy Impairment Score plus 7 nerve tests (NIS+7) which ranges from 0 (no neurologic deficits) to 270 points (no detectable peripheral nerve function).

Sponsor's own description

The purpose of this study is to determine if diflunisal can prevent progressive lower leg nerve damage in patients with familial amyloidosis polyneuropathy.

Funding Source - FDA Office of Orphan Products Development (OOPD); National Institute of Neurological Disorders and Stroke (NINDS)

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
   Berk JL, Suhr OB, Obici L, Sekijima Y, et al · · 2013 · cited 521× · PMID 24368466 · DOI 10.1001/jama.2013.283815
2. Amyloidosis of the gastrointestinal tract: a 13-year, single-center, referral experience.
   Cowan AJ, Skinner M, Seldin DC, Berk JL, et al · · 2013 · cited 117× · PMID 22733017 · DOI 10.3324/haematol.2012.068155
3. Nuclear imaging modalities for cardiac amyloidosis.
   Bokhari S, Shahzad R, Castaño A, Maurer MS. · · 2014 · cited 79× · PMID 24162886 · DOI 10.1007/s12350-013-9803-2
4. Advances in the treatment of hereditary transthyretin amyloidosis: A review.
   Gertz MA, Mauermann ML, Grogan M, Coelho T. · · 2019 · cited 66× · PMID 31368669 · DOI 10.1002/brb3.1371
5. Amyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease.
   Ihne S, Morbach C, Sommer C, Geier A, et al · · 2020 · cited 50× · PMID 32295695 · DOI 10.3238/arztebl.2020.0159
6. Emerging Therapeutics for the Treatment of Light Chain and Transthyretin Amyloidosis.
   Zhang KW, Stockerl-Goldstein KE, Lenihan DJ. · · 2019 · cited 35× · PMID 31312767 · DOI 10.1016/j.jacbts.2019.02.002
7. To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases.
   Lanar S, Acquadro C, Seaton J, Savre I, et al · · 2020 · cited 22× · PMID 32493385 · DOI 10.1186/s13023-020-01400-0
8. Molecular mechanisms and emerging therapies in wild-type transthyretin amyloid cardiomyopathy.
   Wu D, Chen W. · · 2024 · cited 21× · PMID 38233673 · DOI 10.1007/s10741-023-10380-9